Pirastru, Monica and Manca, Laura and Masala, Bruno Lucio (2003) Characterization of four novel variants of goat βA-globin gene. Biochemical Genetics, Vol. 41 (7-8), p. 209-217. eISSN 1573-4927. Article.
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Four novel alleles of the adult β-globin gene of Capra hircus were observed in an extended study on hemoglobin polymorphism in goat breeds living in the island of Sardinia. Nucleotide sequencing showed that one of these alleles is due to a 2 bp substitution at codon 125 (CT→GAG, G, "Leu→Glu). Two substitutions, the silent CT T→CTC for Leu at codon 78 and the conservative A AG→AG G (Lys→Arg) at codon 104, are shared by the other three alleles, two of them having additional mutations, which suggests a common origin. The allele we provisionally called the βY shares four out of five amino acid substitutions, together with the same polymorphisms in the IVSII, we observed previously in the rather common βE gene. This evidence allowed the origin of the βE gene to be better characterized. The data increase to seven the number of alleles at the goat βA-globin locus characterized thus far at the molecular level. A simplified nomenclature for the increasing number of goat β-globin alleles is presented.
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